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rs540255320

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs540255320(A;A)
Make rs540255320(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58482712
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs540255320
ebirs540255320
HLIrs540255320
Exacrs540255320
Varsomers540255320
Maprs540255320
PheGenIrs540255320
hapmaprs540255320
1000 genomesrs540255320
hgdprs540255320
ensemblrs540255320
gopubmedrs540255320
geneviewrs540255320
scholarrs540255320
googlers540255320
pharmgkbrs540255320
gwascentralrs540255320
openSNPrs540255320
23andMers540255320
23andMe allrs540255320
SNP Nexus

SNPshotrs540255320
SNPdbers540255320
MSV3drs540255320
GWAS Ctlgrs540255320
Max Magnitude0
ClinVar
Risk rs540255320(A;A)
Alt rs540255320(A;A)
Reference rs540255320(G;G)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58949430G>A
CLNSRC
CLNACC RCV000201686.1,